Incidental Mutation 'IGL03125:Pygl'
ID 410137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pygl
Ensembl Gene ENSMUSG00000021069
Gene Name liver glycogen phosphorylase
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.586) question?
Stock # IGL03125
Quality Score
Status
Chromosome 12
Chromosomal Location 70237589-70274457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70244256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 471 (S471P)
Ref Sequence ENSEMBL: ENSMUSP00000125585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071250] [ENSMUST00000161083]
AlphaFold Q9ET01
Predicted Effect probably damaging
Transcript: ENSMUST00000071250
AA Change: S562P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071231
Gene: ENSMUSG00000021069
AA Change: S562P

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161083
AA Change: S471P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125585
Gene: ENSMUSG00000021069
AA Change: S471P

DomainStartEndE-ValueType
Pfam:Phosphorylase 21 739 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162613
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A C 5: 114,342,866 (GRCm39) S911R possibly damaging Het
Acap1 G A 11: 69,777,864 (GRCm39) R125C probably damaging Het
Car7 A T 8: 105,274,851 (GRCm39) S131C probably benign Het
Erich6 G T 3: 58,531,727 (GRCm39) T423N probably benign Het
Insr T C 8: 3,234,972 (GRCm39) H174R possibly damaging Het
Lrch3 A G 16: 32,734,647 (GRCm39) S46G possibly damaging Het
Meis3 G T 7: 15,912,695 (GRCm39) R144L probably damaging Het
Obscn T C 11: 58,952,474 (GRCm39) E4162G probably damaging Het
Or10ak9 A T 4: 118,726,118 (GRCm39) I47F possibly damaging Het
Or4m1 T C 14: 50,558,149 (GRCm39) T48A probably benign Het
Per2 T C 1: 91,378,333 (GRCm39) H72R probably benign Het
Prdm11 C T 2: 92,810,967 (GRCm39) A211T probably benign Het
Reln A T 5: 22,115,842 (GRCm39) N3055K probably damaging Het
Spata31 A C 13: 65,068,703 (GRCm39) N284H probably benign Het
Stk36 A T 1: 74,662,472 (GRCm39) D530V probably damaging Het
Stxbp5l G T 16: 37,007,083 (GRCm39) D703E probably benign Het
Usp24 A G 4: 106,249,599 (GRCm39) I1439V probably benign Het
Other mutations in Pygl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Pygl APN 12 70,237,866 (GRCm39) missense probably damaging 1.00
IGL00903:Pygl APN 12 70,254,516 (GRCm39) missense probably damaging 1.00
IGL01965:Pygl APN 12 70,237,888 (GRCm39) missense probably benign 0.00
IGL02347:Pygl APN 12 70,248,666 (GRCm39) missense probably benign 0.14
IGL02403:Pygl APN 12 70,241,032 (GRCm39) missense probably benign
IGL02501:Pygl APN 12 70,237,908 (GRCm39) missense probably benign 0.05
IGL02727:Pygl APN 12 70,254,442 (GRCm39) splice site probably null
IGL03158:Pygl APN 12 70,242,449 (GRCm39) missense probably damaging 1.00
IGL03202:Pygl APN 12 70,246,420 (GRCm39) missense probably benign
IGL03368:Pygl APN 12 70,237,926 (GRCm39) missense probably benign
R0096:Pygl UTSW 12 70,237,940 (GRCm39) splice site probably benign
R0096:Pygl UTSW 12 70,237,940 (GRCm39) splice site probably benign
R0524:Pygl UTSW 12 70,254,498 (GRCm39) missense probably damaging 1.00
R0883:Pygl UTSW 12 70,253,178 (GRCm39) missense probably damaging 0.97
R0894:Pygl UTSW 12 70,241,148 (GRCm39) splice site probably benign
R0905:Pygl UTSW 12 70,257,791 (GRCm39) splice site probably benign
R1494:Pygl UTSW 12 70,246,504 (GRCm39) missense probably damaging 0.98
R1621:Pygl UTSW 12 70,237,866 (GRCm39) missense probably damaging 1.00
R1647:Pygl UTSW 12 70,243,784 (GRCm39) missense possibly damaging 0.60
R3082:Pygl UTSW 12 70,244,303 (GRCm39) missense probably damaging 1.00
R3845:Pygl UTSW 12 70,245,217 (GRCm39) missense probably benign 0.12
R3876:Pygl UTSW 12 70,248,113 (GRCm39) missense probably damaging 1.00
R4358:Pygl UTSW 12 70,242,464 (GRCm39) missense probably damaging 1.00
R4614:Pygl UTSW 12 70,257,753 (GRCm39) splice site probably null
R4707:Pygl UTSW 12 70,254,532 (GRCm39) missense possibly damaging 0.69
R4908:Pygl UTSW 12 70,243,807 (GRCm39) missense probably null
R4940:Pygl UTSW 12 70,253,155 (GRCm39) missense probably damaging 1.00
R5077:Pygl UTSW 12 70,248,666 (GRCm39) missense probably benign 0.14
R5186:Pygl UTSW 12 70,248,118 (GRCm39) missense probably damaging 1.00
R5726:Pygl UTSW 12 70,237,916 (GRCm39) nonsense probably null
R5953:Pygl UTSW 12 70,266,401 (GRCm39) missense probably damaging 1.00
R5957:Pygl UTSW 12 70,246,494 (GRCm39) missense probably damaging 0.99
R6020:Pygl UTSW 12 70,263,428 (GRCm39) missense probably damaging 1.00
R6024:Pygl UTSW 12 70,243,841 (GRCm39) missense probably benign 0.09
R7050:Pygl UTSW 12 70,266,396 (GRCm39) missense probably damaging 1.00
R7159:Pygl UTSW 12 70,244,180 (GRCm39) missense probably benign 0.41
R7194:Pygl UTSW 12 70,241,094 (GRCm39) missense probably benign
R7283:Pygl UTSW 12 70,263,342 (GRCm39) missense possibly damaging 0.92
R7360:Pygl UTSW 12 70,274,306 (GRCm39) missense probably benign 0.11
R7446:Pygl UTSW 12 70,243,784 (GRCm39) missense probably benign
R7637:Pygl UTSW 12 70,244,569 (GRCm39) splice site probably null
R7886:Pygl UTSW 12 70,253,130 (GRCm39) splice site probably null
R8054:Pygl UTSW 12 70,274,113 (GRCm39) critical splice donor site probably null
R8693:Pygl UTSW 12 70,244,180 (GRCm39) missense probably benign 0.41
R8753:Pygl UTSW 12 70,242,400 (GRCm39) missense probably damaging 1.00
R8803:Pygl UTSW 12 70,242,390 (GRCm39) missense probably damaging 1.00
R8842:Pygl UTSW 12 70,274,368 (GRCm39) intron probably benign
R9192:Pygl UTSW 12 70,243,822 (GRCm39) missense probably damaging 0.99
R9221:Pygl UTSW 12 70,242,401 (GRCm39) missense probably damaging 1.00
R9437:Pygl UTSW 12 70,246,925 (GRCm39) missense probably damaging 1.00
R9750:Pygl UTSW 12 70,245,303 (GRCm39) missense possibly damaging 0.68
Z1176:Pygl UTSW 12 70,269,648 (GRCm39) missense probably benign 0.09
Posted On 2016-08-02